ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829699114
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000077483
RCV000496824
RCV000570028
RCV000985365
RCV001270963
ClinVar Variation:
54152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Cys39Arg
CA000766
NM_007298.3:c.115T>C