Canonical Allele Identifier: PA1139722648
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000032630
ClinVar Variation:
39435
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009102.4:p.Thr414Met
CA211172
NM_007171.4:c.1241C>T