Canonical Allele Identifier: PA916004396
Gene: ECHS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004083.3:p.Gly195Ser
CA5765722
NM_004092.4:c.583G>A
CA2573145603
NM_004092.4:c.582_583delinsCA