ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829700572
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55283
ClinVar RCV Id:
RCV000083212
RCV000166139
RCV000437561
RCV000587292
RCV001081217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Arg485Cys
CA003012
NM_007298.3:c.1453C>T