Canonical Allele Identifier: PA095380
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_001388.1:p.Arg754Cys
CA120130
NM_001397.3:c.2260C>T