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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:
CA2593902006
Gene:
Linked Data
gnomAD v3:
9-25551223-T-TGAATTCACA
gnomAD v4:
9-25551223-T-TGAATTCACA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.25551226_25551234dup , CM000671.2:g.25551226_25551234dup
GRCh38
NC_000009.11:g.25551224_25551232dup , CM000671.1:g.25551224_25551232dup
GRCh37
NC_000009.10:g.25541224_25541232dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_929525.1:n.50-660_50-652dup
XR_929525.2:n.674-660_674-652dup
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