ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA348324
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219997
ClinVar RCV Id:
RCV000204053
RCV001281327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Cys92Arg
CA348322
NM_001142301.1:c.274T>C