ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825843169
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521968
ClinVar RCV Id:
RCV000624890
RCV000680126
RCV001821759
RCV001855314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Ala491Thr
CA371692274
NM_001142301.1:c.1471G>A