ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120131
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_001106819.1:p.Arg738Cys
CA120130
NM_001113348.2:c.2212C>T