ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499298813
Gene: TMC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689681.2:p.Arg222Gln
CA8796552
NM_152468.5:c.665G>A