Allele Registry

Canonical Allele Identifier: PA253008

Gene: TMC1 HGNC NCBI

ClinVar RCV:

RCV000004323

RCV001291367

ClinVar Variation:

4107

HGVS (amino-acid)	Matching Registered Transcripts
NP_619636.2:p.Cys515Arg	CA253007 NM_138691.3:c.1543T>C