Canonical Allele Identifier: PA279456
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 217729
ClinVar RCV Id: RCV000201654 RCV001307480 RCV001161723 RCV001163244 RCV001804938
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135773.1:p.Leu615Phe
CA279453
NM_001142301.1:c.1843C>T