Canonical Allele Identifier: PA092955
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3224
ClinVar RCV Id: RCV000003380 RCV000551490
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_037514.2:p.Trp748Arg
CA116100
NM_013382.7:c.2242T>C
CA390512544
NM_013382.7:c.2242T>A