ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825842990
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461772
ClinVar RCV Id:
RCV000542172
RCV002245001
RCV002476130
RCV003488671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Arg132His
CA4807723
NM_001142301.1:c.395G>A