ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827058491
Gene: ETHE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307796.1:p.Ser166Leu
CA9487830
NM_001320867.2:c.497C>T