ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000081
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
242781
ClinVar RCV:
RCV000502901
RCV000573048
RCV000588711
RCV001084868
ClinVar Variation:
240797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1246Asn
CA10583565
NM_007300.4:c.3737C>A