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Canonical Allele Identifier: Get Identifier
Gene: GCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000152.1:p.Ser250Arg
CA389786581
NM_000161.3:c.750C>G
CA389786583
NM_000161.3:c.750C>A
CA389786589
NM_000161.3:c.748A>C