ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580233407
Gene: ECH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001389.2:p.Leu260Pro
CA9420025
NM_001398.3:c.779T>C