ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA114971
Gene: TMEM67
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
16416
ClinVar RCV:
RCV000001444
RCV000234830
RCV000725926
RCV001085857
RCV001158404
RCV001158405
RCV001158406
RCV001198570
RCV001333012
RCV003488318
RCV004528064
ClinVar Variation:
1377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Ser239Cys
CA114968
NM_001142301.1:c.715A>T