Canonical Allele Identifier: PA2827713323
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2039569
ClinVar RCV Id: RCV002907915 RCV003134521 RCV003274065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Ser696Arg
CA5293921
NM_001353193.2:c.2088C>G
CA375314944
NM_001353193.2:c.2086A>C
CA375314953
NM_001353193.2:c.2088C>A