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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:
CA2747599613
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.211379708del , CM000663.2:g.211379708del
GRCh38
NC_000001.10:g.211553050del , CM000663.1:g.211553050del
GRCh37
NC_000001.9:g.209619673del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738446.1:n.291+2487del
Search 100 bp 5'
Search 100 bp 3'