ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996085
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221036
ClinVar RCV Id:
RCV000204469
RCV000568268
RCV000779855
RCV003997666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile379Val
CA348689
NM_007300.4:c.1135A>G