ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000188
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142031
ClinVar RCV Id:
RCV000130824
RCV000460978
RCV000589536
RCV003998081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu1267Ser
CA002448
NM_007300.4:c.3800T>C