ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120133
Gene: ECE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106820.1:p.Arg751Cys
CA120130
NM_001113349.2:c.2251C>T