ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693196
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54958
ClinVar RCV Id:
RCV000112150
RCV000132409
RCV000767143
RCV002250538
RCV001400108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu1174Ala
CA002346
NM_007297.4:c.3521A>C