Canonical Allele Identifier: PA2827683262
Gene: D2HGDH HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339753.1:p.Gly249Val
CA351412860
NM_001352824.2:c.746G>T