ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688664
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441286
ClinVar RCV Id:
RCV000510130
RCV000637451
RCV001778985
RCV004003566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Tyr375His
CA057131
NM_007297.4:c.1123T>C