ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000590
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55089
ClinVar RCV Id:
RCV000112235
RCV000132305
RCV001351578
RCV001729372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1352Lys
CA002589
NM_007300.4:c.4054G>A