Canonical Allele Identifier: PA916004397
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802640
ClinVar RCV Id: RCV000988461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004083.3:p.Cys213Arg
CA378819436
NM_004092.4:c.637T>C