Canonical Allele Identifier: PA2829694465
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV003069110
ClinVar Variation:
2154108
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009102.4:p.Trp186Cys
CA5293322
NM_007171.4:c.558G>T
CA375307163
NM_007171.4:c.558G>C