Canonical Allele Identifier: PA2573255014
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1443726
ClinVar RCV Id: RCV001981367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_037514.2:p.Ser269Arg
CA7286088
NM_013382.7:c.807T>G
CA390520091
NM_013382.7:c.807T>A
CA390520096
NM_013382.7:c.805A>C