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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:
CA2746419258
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.163063924del , CM000663.2:g.163063924del
GRCh38
NC_000001.10:g.163033714del , CM000663.1:g.163033714del
GRCh37
NC_000001.9:g.161300338del
NCBI36
NG_023312.1:g.319del
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