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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:
PA2579983659
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
865699
ClinVar RCV Id:
RCV001073167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1644Val
CA10591660
NM_007294.4:c.4931A>T