Allele Registry

Canonical Allele Identifier: PA102684

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000201544

ClinVar Variation:

217713

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Pro485Ser	CA279362 NM_153704.6:c.1453C>T