ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA114980
Gene: TMEM67
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Cys534Arg
CA114977
NM_001142301.1:c.1600T>C