Canonical Allele Identifier: PA2828537838
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286908
ClinVar RCV Id: RCV000712829 RCV000764805 RCV001041917 RCV003454804 RCV004021212
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361622.1:p.Ser229Arg
CA5293451
NM_001374693.1:c.685A>C
CA375307957
NM_001374693.1:c.687C>A
CA375307958
NM_001374693.1:c.687C>G