ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645473161
Gene: ETHE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055112.2:p.Ser106Thr
CA10642902
NM_014297.5:c.317G>C