Canonical Allele Identifier: PA2827715607
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2039569
ClinVar RCV Id: RCV002907915 RCV003134521 RCV003274065
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340126.2:p.Ser642Arg
CA5293921
NM_001353197.2:c.1926C>G
CA375314944
NM_001353197.2:c.1924A>C
CA375314953
NM_001353197.2:c.1926C>A