ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499277228
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1017589
ClinVar RCV Id:
RCV001316761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Ile333Val
CA390519679
NM_013382.7:c.997A>G