ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416365
Gene: HMGCS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005509.1:p.Val508Ile
CA1037511
NM_005518.4:c.1522G>A