Canonical Allele Identifier: PA2573234359
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1450201
ClinVar RCV Id: RCV002004789
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004083.3:p.Ala28Ser
CA5765895
NM_004092.4:c.82G>T