ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580207515
Gene: ETHE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307797.1:p.Pro90Ser
CA406174991
NM_001320868.2:c.268C>T