ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689680
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54329
ClinVar RCV Id:
RCV000083171
RCV000131307
RCV000443568
RCV000588961
RCV001079198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro521Leu
CA001117
NM_007297.4:c.1562C>T