Canonical Allele Identifier: PA2580463344
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2050510
ClinVar RCV Id: RCV002904477
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078872.3:p.Ala404Val
CA4610491
NM_024596.5:c.1211C>T