ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645381396
Gene: L2HGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435697
ClinVar RCV Id:
RCV000501806
RCV000962502
RCV003960169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079160.1:p.Thr46Ile
CA7178127
NM_024884.3:c.137C>T