Canonical Allele Identifier: PA2828129449
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1378966
ClinVar RCV Id: RCV001883529
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350909.1:p.Leu429Phe
CA4610511
NM_001363980.2:c.1285C>T