ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829693957
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000159985
RCV001021665
RCV002515110
ClinVar Variation:
182157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu1292Lys
CA002567
NM_007297.4:c.3874G>A