ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000627
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577462
RCV000772125
ClinVar Variation:
55096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1358Lys
CA002601
NM_007300.4:c.4072G>A