Canonical Allele Identifier: PA1139727579
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 972468
ClinVar RCV Id: RCV001248506 RCV003128769 RCV001331802 RCV002568686
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_037514.2:p.Val660Phe
CA7285579
NM_013382.7:c.1978G>T