ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658707460
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000583019
RCV000588879
RCV000806646
ClinVar Variation:
491061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1134Lys
CA10595178
NM_007294.4:c.3400G>A