ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826018407
Gene: HMGCS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
662406
ClinVar RCV Id:
RCV000820039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159579.1:p.Ala388Val
CA1037612
NM_001166107.1:c.1163C>T