ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499282957
Gene: BCO1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001662898
ClinVar Variation:
1253021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_059125.2:p.Ala379Val
CA8191020
NM_017429.3:c.1136C>T