Canonical Allele Identifier: PA2827716979
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000003397
ClinVar Variation:
3241
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340129.1:p.Leu247del
CA278045
NM_001353200.2:c.738_740del