Canonical Allele Identifier: PA2573234346
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470885
ClinVar RCV Id: RCV001964399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004083.3:p.Gly13Arg
CA5765908
NM_004092.4:c.37G>C