ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829758636
Gene: ETHE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055112.2:p.His179Tyr
CA9487828
NM_014297.5:c.535C>T