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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:
CA2531408402
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.17843959del , CM000664.2:g.17843959del
GRCh38
NC_000002.11:g.18025226del , CM000664.1:g.18025226del
GRCh37
NC_000002.10:g.17888707del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939764.2:n.447+3738del
Search 100 bp 5'
Search 100 bp 3'