ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000414
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220135
ClinVar RCV Id:
RCV000204872
RCV003157452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1310Arg
CA349065
NM_007300.4:c.3929C>G