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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:
CA2785643839
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114327462_114327465dup , CM000671.2:g.114327462_114327465dup
GRCh38
NC_000009.11:g.117089742_117089745dup , CM000671.1:g.117089742_117089745dup
GRCh37
NC_000009.10:g.116129563_116129566dup
NCBI36
NG_012108.1:g.9440_9443dup
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