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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:
CA2691804903
Gene:
Linked Data
gnomAD v4:
9-127814901-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.127814905del , CM000671.2:g.127814905del
GRCh38
NC_000009.11:g.130577184del , CM000671.1:g.130577184del
GRCh37
NC_000009.10:g.129617005del
NCBI36
NG_009551.1:g.44867del , LRG_589:g.44867del
NG_023245.1:g.17031del
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