Canonical Allele Identifier: PA2828129478
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1421730
ClinVar RCV Id: RCV001917073
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350909.1:p.Ile473Leu
CA370221595
NM_001363980.2:c.1417A>C