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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1509094136
Gene: NPY1R
HGNC
NCBI
Linked Data
dbSNP Id:
rs1734559717
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.163324517del , CM000666.2:g.163324517del
GRCh38
NC_000004.11:g.164245669del , CM000666.1:g.164245669del
GRCh37
NC_000004.10:g.164465119del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296533.3:c.*788del
MANE Select
ENSP00000354652.2:n.*788del
ENST00000296533.2:c.*788del
ENSP00000354652.2:n.*788del
NM_000909.5:c.*788del
NP_000900.1:n.*788del
XM_005263031.2:c.*788del
XP_005263088.1:n.*788del
XM_011532010.1:c.*788del
XP_011530312.1:n.*788del
XM_005263031.4:c.*788del
XP_005263088.1:n.*788del
XM_011532010.3:c.*788del
XP_011530312.1:n.*788del
NM_000909.6:c.*788del
MANE Select
NP_000900.1:n.*788del
Search 100 bp 5'
Search 100 bp 3'