Canonical Allele Identifier: PA2573234349
Gene: ECHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1389349
ClinVar RCV Id: RCV001889199 RCV003492694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004083.3:p.Cys21Ser
CA378824462
NM_004092.4:c.62G>C
CA378824466
NM_004092.4:c.61T>A