ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA192370
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55279
ClinVar RCV Id:
RCV000048651
RCV000083211
RCV000165039
RCV000212186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala1584Ser
CA003005
NM_007294.4:c.4750G>T