ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580455482
Gene: L2HGDH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079160.1:p.Ile76Val
CA7178093
NM_024884.3:c.226A>G