Canonical Allele Identifier: PA120133
Gene: ECE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9133
ClinVar RCV Id: RCV000009704
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001106820.1:p.Arg751Cys
CA120130
NM_001113349.2:c.2251C>T