ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691217
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54564
ClinVar RCV Id:
RCV000111854
RCV001015485
RCV001194351
RCV001363802
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala760Ser
CA001612
NM_007297.4:c.2278G>T