ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829697557
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96947
ClinVar RCV Id:
RCV000083068
RCV000774929
RCV001854450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys1712Arg
CA003417
NM_007297.4:c.5135A>G