ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580207528
Gene: ETHE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307798.1:p.Ser79Leu
CA9487830
NM_001320869.2:c.236C>T