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Canonical Allele Identifier: Get Identifier
Gene: GCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019242.1:p.[Ala190_Ala196delinsGlyCysSerAsnHisGlySer;Arg198_Pro199delinsAla;Gly201_Thr209delinsCysTrpSerArgGly;Ala211_Pro213delinsGly]
CA2695219309
NM_001024071.2:c.568dup