ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690748
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496352
ClinVar RCV Id:
RCV000588733
RCV002222188
RCV003157726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser669Thr
CA10597710
NM_007297.4:c.2006G>C