ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000533
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000159985
RCV001021665
RCV002515110
ClinVar Variation:
182157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1339Lys
CA002567
NM_007300.4:c.4015G>A