ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645473166
Gene: ETHE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055112.2:p.Cys161Tyr
CA406175487
NM_014297.5:c.482G>A