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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.Cys510Ser
CA413787659
NM_000390.4:c.1529G>C
CA413787661
NM_000390.4:c.1528T>A