ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693391
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54994
ClinVar RCV Id:
RCV000048320
RCV000112174
RCV000212176
RCV000216713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys1207Glu
CA002415
NM_007297.4:c.3619A>G