Canonical Allele Identifier: PA2827140987
Gene: MCPH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Arg169Ser
CA4610271
NM_001322043.2:c.507G>T
CA4610272
NM_001322043.2:c.507G>C