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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:
CA2490662442
Gene:
Linked Data
dbSNP Id:
rs1664688380
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.14926059del , CM000664.2:g.14926059del
GRCh38
NC_000002.11:g.15066183del , CM000664.1:g.15066183del
GRCh37
NC_000002.10:g.14983634del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_922818.1:n.205-146912del
Search 100 bp 5'
Search 100 bp 3'