ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829136380
Gene: TMEM218
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374162.1:p.Arg80Cys
CA6347295
NM_001387233.1:c.238C>T