ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689328
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54288
ClinVar RCV Id:
RCV000577523
RCV001348060
RCV003157330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu468Gly
CA001036
NM_007297.4:c.1403A>G