Canonical Allele Identifier: PA2828535852
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1499583
ClinVar RCV Id: RCV002012875
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361618.1:p.Thr446Ser
CA375311481
NM_001374689.1:c.1336A>T
CA375311492
NM_001374689.1:c.1337C>G