ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829690168
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54387
ClinVar RCV Id:
RCV000077500
RCV000510032
RCV000656639
RCV004554653
RCV001085614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro586Ser
CA001237
NM_007297.4:c.1756C>T