Canonical Allele Identifier: PA2499290559
Gene: MCPH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078872.3:p.Arg171Ser
CA4610271
NM_024596.5:c.513G>T
CA4610272
NM_024596.5:c.513G>C