Canonical Allele Identifier: PA645503263
Gene: CHM HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000381.1:p.Ser340Ter
NM_000390.4:c.1019C>A

NM_000390.4:c.1019C>G

NM_000390.4:c.1019_1020delinsGAC