ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829690838
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481479
ClinVar RCV Id:
RCV000561453
RCV000587563
RCV001203880
RCV001821667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys692Glu
CA058738
NM_007297.4:c.2074A>G