Allele Registry

Canonical Allele Identifier: PA253896

Gene: COCH HGNC NCBI

ClinVar RCV:

RCV000006993

RCV000214849

RCV001547940

ClinVar Variation:

6614

HGVS (amino-acid)	Matching Registered Transcripts
NP_004077.1:p.Cys542Phe	CA253895 NM_004086.3:c.1625G>T