ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997711
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000226603
RCV001525772
ClinVar Variation:
240781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp749Asn
CA10583573
NM_007300.4:c.2245G>A