Canonical Allele Identifier: PA120132
Gene: ECE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9133
ClinVar RCV Id: RCV000009704
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Amino-acid Alleles

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