ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267989
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111955
RCV001349170
RCV002433541
RCV003476950
ClinVar Variation:
54706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Phe958Ile
CA001874
NM_007294.4:c.2872T>A