Canonical Allele Identifier: PA891846380
Gene: HMGCL HGNC NCBI

Linked Data

ClinVar Variation Id: 568971
ClinVar RCV Id: RCV000689485
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000182.2:p.Ser315Arg
CA339019378
NM_000191.3:c.945C>G
CA339019389
NM_000191.3:c.945C>A
CA339019470
NM_000191.3:c.943A>C