Allele Registry

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Canonical Allele Identifier: PA645501556

Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286812

ClinVar RCV Id: RCV000355610 RCV002519265

ClinVar Variation Id: 994733

ClinVar RCV Id: RCV001288360 RCV001871711

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_037514.2:p.Trp695Arg	CA7285550 NM_013382.7:c.2083T>A CA10605576 NM_013382.7:c.2083T>C