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Canonical Allele Identifier: Get Identifier
Gene: GCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000378890.1:p.[Thr186_Lys187del;Ile189_Ala196delinsAsnLysLeu;Pro199_Arg216del]
CA2624944984
ENST00000395514.5:c.555del
CA2695219311
ENST00000395514.5:c.556del