Allele Registry

Canonical Allele Identifier: PA120132

Gene: ECE1 HGNC NCBI

ClinVar RCV:

RCV000009704

ClinVar Variation:

9133

HGVS (amino-acid)	Matching Registered Transcripts
NP_001106818.1:p.Arg742Cys	CA120130 NM_001113347.2:c.2224C>T