ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829692477
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54812
ClinVar RCV Id:
RCV000048116
RCV000112040
RCV000130262
RCV000212172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gly1040Ala
CA002109
NM_007297.4:c.3119G>C