Canonical Allele Identifier: PA645381396
Gene: L2HGDH HGNC NCBI

Linked Data

ClinVar Variation Id: 435697
ClinVar RCV Id: RCV000501806 RCV000962502 RCV003960169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079160.1:p.Thr46Ile
CA7178127
NM_024884.3:c.137C>T