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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:
CA2767457776
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.92222941_92222942del , CM000667.2:g.92222941_92222942del
GRCh38
NC_000005.9:g.91518758_91518759del , CM000667.1:g.91518758_91518759del
GRCh37
NC_000005.8:g.91554514_91554515del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_948565.1:n.394+18257_394+18258del
Search 100 bp 5'
Search 100 bp 3'