ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913197808
Gene: EHHADH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001957.2:p.Tyr493Cys
CA355677391
NM_001966.4:c.1478A>G