ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829691045
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182145
ClinVar RCV Id:
RCV000163092
RCV000159967
RCV001061346
RCV003998432
RCV003479028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu724Ser
CA001543
NM_007297.4:c.2171T>C