ClinGen Allele Registry
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Canonical Allele Identifier:
PA915999096
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54776
ClinVar RCV Id:
RCV000112008
RCV000129517
RCV000709476
RCV000588811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gly1048Asp
CA002048
NM_007300.4:c.3143G>A