ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829678556
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2753409
ClinVar RCV:
RCV003339011
RCV003530307
ClinVar Variation:
2585849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gln494Lys
CA10599088
NM_007294.4:c.1480C>A