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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:
CA2727015055
Gene:
Linked Data
dbSNP Id:
rs2137332778
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501318del , CM000674.2:g.102501318del
GRCh38
NC_000012.11:g.102895096del , CM000674.1:g.102895096del
GRCh37
NC_000012.10:g.101419226del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749289.1:n.1952+17430del
Search 100 bp 5'
Search 100 bp 3'