ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689659
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000031008
RCV000536478
RCV003156722
ClinVar Variation:
37427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asn517Tyr
CA001110
NM_007297.4:c.1549A>T