ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA102498
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1383
ClinVar RCV Id:
RCV000001452
RCV000001451
RCV000283682
RCV000234823
RCV000415055
RCV000479077
RCV000534533
RCV000623857
RCV000627004
RCV000763610
RCV001197497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Cys615Arg
CA114977
NM_153704.6:c.1843T>C