ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688514
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531267
ClinVar RCV Id:
RCV000637457
RCV003157756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp349Gly
CA10599677
NM_007297.4:c.1046A>G