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Canonical Allele Identifier: Get Identifier
Gene: GCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000444011.2:p.[Gln48_Pro49del;Asp51Arg;Trp53_Gly55delinsArgLeu;Arg57_Pro58delinsGly;Ser60_Leu68delinsAlaAla;Asn70_Ser77delinsGlnArgGlyGly]
CA2695219336
ENST00000543643.6:c.141_142del