ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA913198847
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
595717
ClinVar RCV Id:
RCV000731348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Ser222Cys
CA263837514
NM_013382.7:c.665C>G