ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826018326
Gene: HMGCS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159579.1:p.Ala171Val
CA341864330
NM_001166107.1:c.512C>T