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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:
CA1445844274
Gene: CCKAR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1737528354
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.26490108dup , CM000666.2:g.26490108dup
GRCh38
NC_000004.11:g.26491730dup , CM000666.1:g.26491730dup
GRCh37
NC_000004.10:g.26100828dup
NCBI36
NG_012053.1:g.5315dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000295589.4:c.112+50dup
MANE Select
ENSP00000295589.3:n.112+50dup
ENST00000295589.3:c.112+50dup
ENSP00000295589.3:n.112+50dup
NM_000730.2:c.112+50dup
NP_000721.1:n.112+50dup
NM_000730.3:c.112+50dup
MANE Select
NP_000721.1:n.112+50dup
Search 100 bp 5'
Search 100 bp 3'