ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573246791
Gene: HMGCS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005509.1:p.Ser392Leu
CA1037659
NM_005518.4:c.1175C>T