ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000029
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216665
ClinVar RCV Id:
RCV000198979
RCV000424940
RCV000510050
RCV001358174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asn1236Ser
CA338320
NM_007300.4:c.3707A>G