ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729799
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
921759
ClinVar RCV Id:
RCV001181396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Arg504Leu
CA10599021
NM_007300.4:c.1511G>T