ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689109
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54261
ClinVar RCV Id:
RCV000111625
RCV001315065
RCV003157328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu442Lys
CA000983
NM_007297.4:c.1324G>A