ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996519
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111627
RCV002514229
RCV003157329
ClinVar Variation:
54265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gln491Arg
CA000989
NM_007300.4:c.1472A>G