Allele Registry

Canonical Allele Identifier: PA150999

Gene: TMEM67 HGNC NCBI

ClinVar Allele:

131834

ClinVar RCV:

RCV000114245

RCV000419164

RCV001079645

RCV001163245

RCV001163246

RCV001163247

ClinVar Variation:

126302

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Pro721Ser	CA150995 NM_153704.6:c.2161C>T