Canonical Allele Identifier: PA144447
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 56766
ClinVar RCV Id: RCV000050179
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135773.1:p.Asp365His
CA144444
NM_001142301.1:c.1093G>C