Canonical Allele Identifier: PA2580285387
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1992780
ClinVar RCV Id: RCV002796179

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004083.3:p.Met1Ile
CA5765923
NM_004092.4:c.3G>A
CA378824564
NM_004092.4:c.3G>T
CA378824565
NM_004092.4:c.3G>C