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Canonical Allele Identifier: Get Identifier
Gene: SLC12A5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000243964.3:p.[Glu1002Gly;Val1004_Lys1012delinsGlyArgGlnIleArgArgArgCysIle;Val1014_Ser1022delinsProGlyProArgThrSerArgTrpGlnArgArgIleArgAla;Ser1025Leu;Glu1027_Asp1031delinsProLeuArgAlaSerArgThr]
CA2653126542
ENST00000243964.6:c.2985_3004dup