ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA172455
Gene: L2HGDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158799
ClinVar RCV Id:
RCV000146250
RCV000676578
RCV001516293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079160.1:p.Leu18Arg
CA172454
NM_024884.3:c.53T>G