ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658660397
Gene: HMGCS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452101
ClinVar RCV Id:
RCV000522718
RCV000805374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005509.1:p.Arg501Pro
CA30269195
NM_005518.4:c.1502G>C