ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120265
Gene: HMGCS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009843
ClinVar Variation:
9261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159579.1:p.Val54Met
CA120262
NM_001166107.1:c.160G>A