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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:
CA1818178335
Gene: PRNCR1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1813768205
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127091602del , CM000670.2:g.127091602del
GRCh38
NC_000008.10:g.128103847del , CM000670.1:g.128103847del
GRCh37
NC_000008.9:g.128173029del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_109833.1:n.11729del
Search 100 bp 5'
Search 100 bp 3'