Canonical Allele Identifier: PA120131
Gene: ECE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9133
ClinVar RCV Id: RCV000009704

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001106819.1:p.Arg738Cys
CA120130
NM_001113348.2:c.2212C>T