ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829692649
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531290
ClinVar RCV Id:
RCV000637495
RCV002325231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asn1074Asp
CA10595259
NM_007297.4:c.3220A>G