ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA196989
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54200
ClinVar RCV Id:
RCV000077487
RCV000166901
RCV000434130
RCV000496386
RCV000735465
RCV000763011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Cys44Phe
CA000862
NM_007294.4:c.131G>T