Canonical Allele Identifier: PA279474
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 217708
ClinVar RCV Id: RCV000201665

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135773.1:p.Phe556Leu
CA279471
NM_001142301.1:c.1668C>A
CA371693285
NM_001142301.1:c.1666T>C
CA371693291
NM_001142301.1:c.1668C>G