ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000592
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246375
ClinVar RCV Id:
RCV000235734
RCV000637763
RCV003157493
RCV003998925
RCV003987475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1352Val
CA10584558
NM_007300.4:c.4055A>T