Canonical Allele Identifier: PA645435071
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377257
ClinVar RCV Id: RCV000421257 RCV000578195 RCV001267047
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004083.3:p.Ala173Val
CA5765733
NM_004092.4:c.518C>T