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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:
CA1818161784
Gene:
Linked Data
dbSNP Id:
rs1815130229
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127012616del , CM000670.2:g.127012616del
GRCh38
NC_000008.10:g.128024861del , CM000670.1:g.128024861del
GRCh37
NC_000008.9:g.128094043del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746076.2:n.1364+5998del
Search 100 bp 5'
Search 100 bp 3'