Canonical Allele Identifier: PA120131
Gene: ECE1 HGNC NCBI
ClinVar RCV:
RCV000009704
ClinVar Variation:
9133
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Amino-acid Alleles

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