ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103681
Gene: HMGCS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9260
ClinVar RCV Id:
RCV000009842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005509.1:p.Arg500His
CA120258
NM_005518.4:c.1499G>A