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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:
CA2059284999
Gene:
Linked Data
dbSNP Id:
rs1881753719
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501351_102501354del , CM000674.2:g.102501351_102501354del
GRCh38
NC_000012.11:g.102895129_102895132del , CM000674.1:g.102895129_102895132del
GRCh37
NC_000012.10:g.101419259_101419262del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749289.1:n.1952+17463_1952+17466del
Search 100 bp 5'
Search 100 bp 3'