ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825445097
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502200
ClinVar RCV Id:
RCV000591710
RCV000819538
RCV003459474
RCV002532650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070833.1:p.Pro66Leu
CA5293180
NM_001077365.2:c.197C>T