Canonical Allele Identifier: PA2580463341
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2483447
ClinVar RCV Id: RCV003211855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078872.3:p.Ser380Tyr
CA4610470
NM_024596.5:c.1139C>A