Allele Registry

Canonical Allele Identifier: PA150998

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_001135773.1:p.Pro640Ser	CA150995 NM_001142301.1:c.1918C>T