Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: TMC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000493698.1:p.Ser554Arg	CA373669576 ENST00000645773.1:c.1660A>C CA373669580 ENST00000645773.1:c.1662C>A CA373669581 ENST00000645773.1:c.1662C>G