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Canonical Allele Identifier: Get Identifier
Gene: GCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000477796.1:p.[Ala190_Ala196delinsGlyCysSerAsnHisGlySer;Arg198_Pro199del;Gly201_Glu207del;Thr209_Met211del;Met213_Met215delinsTrpSer;Val218_Gln219delinsSerGly]
CA2695219309
ENST00000622544.4:c.568dup