ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139730527
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
872254
ClinVar RCV Id:
RCV001092624
RCV001202161
RCV002418576
RCV004000219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.His692Pro
CA10597852
NM_007300.4:c.2075A>C