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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:
CA2758854664
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.149126600_149126927del , CM000665.2:g.149126600_149126927del
GRCh38
NC_000003.11:g.148844387_148844714del , CM000665.1:g.148844387_148844714del
GRCh37
NC_000003.10:g.150327077_150327404del
NCBI36
NG_009847.1:g.2017_2344del
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