ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658666342
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482905
ClinVar RCV Id:
RCV000573001
RCV000820698
RCV001527065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro698Leu
CA10597813
NM_007294.4:c.2093C>T