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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:
PA915996252
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182076
ClinVar RCV Id:
RCV000159846
RCV000204508
RCV000214615
RCV000515362
RCV000409308
RCV000779906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp420Gly
CA000831
NM_007300.4:c.1259A>G