Allele Registry

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Canonical Allele Identifier: Get Identifier

Gene: PKLR HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_006711449.1:p.Val173Leu	CA342754816 XM_006711386.4:c.517G>T CA342754818 XM_006711386.4:c.517G>C