Canonical Allele Identifier: PA2827716145
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283065
ClinVar RCV Id: RCV000325563 RCV000800012 RCV003278734
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340127.2:p.Arg567Gln
CA5293827
NM_001353198.2:c.1700G>A