Allele Registry

Canonical Allele Identifier: PA279457

Gene: TMEM67 HGNC NCBI

ClinVar RCV:

RCV000201654

RCV001161723

RCV001163244

RCV001307480

RCV001804938

ClinVar Variation:

217729

HGVS (amino-acid)	Matching Registered Transcripts
NP_714915.3:p.Leu696Phe	CA279453 NM_153704.6:c.2086C>T