ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580334816
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2055058
ClinVar RCV Id:
RCV002909946
RCV003157303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asn998Asp
CA10595718
NM_007297.4:c.2992A>G