ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689039
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419779
ClinVar RCV Id:
RCV000480844
RCV001011564
RCV002525813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu432Lys
CA10599175
NM_007297.4:c.1294G>A