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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:
CA1874009145
Gene:
Linked Data
dbSNP Id:
rs1829827342
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114806460_114806461del , CM000671.2:g.114806460_114806461del
GRCh38
NC_000009.11:g.117568740_117568741del , CM000671.1:g.117568740_117568741del
GRCh37
NC_000009.10:g.116608561_116608562del
NCBI36
NG_011488.2:g.4669_4670del
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