ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825445729
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1013680
ClinVar RCV Id:
RCV001312304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070833.1:p.Pro462Ser
CA375311777
NM_001077365.2:c.1384C>T