Canonical Allele Identifier: PA2573234351
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1352310
ClinVar RCV Id: RCV002047505

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004083.3:p.Pro22Leu
CA216820881
NM_004092.4:c.65C>T