Canonical Allele Identifier: PA2580360964
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1993917
ClinVar RCV Id: RCV002806471

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_037514.2:p.Asp260Glu
CA390520151
NM_013382.7:c.780C>G
CA390520152
NM_013382.7:c.780C>A