ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689397
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245690
ClinVar RCV Id:
RCV000236949
RCV001193189
RCV001362691
RCV002401917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val478Ala
CA10584571
NM_007297.4:c.1433T>C