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Canonical Allele Identifier: Get Identifier
Gene: CHM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.[Asn180_Lys185del;Cys187Ile;Pro189_Asp195del;Ser197_Asn199delinsIleLysLeu;Pro201_Gln209delinsCysHisGlnLeuGlnGlnLysThr]
CA1139667679
NM_000390.4:c.539del