ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992389
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55552
ClinVar RCV Id:
RCV000048962
RCV000580411
RCV000989865
RCV001795044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ala685Thr
CA003531
NM_007298.3:c.2053G>A