Canonical Allele Identifier: PA645435069
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379794
ClinVar RCV Id: RCV000432904 RCV000578268 RCV002252122
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004083.3:p.Gln159Arg
CA5765764
NM_004092.4:c.476A>G