Canonical Allele Identifier: PA2827141195
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2491133
ClinVar RCV Id: RCV003211286
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Arg483Gln
CA4610562
NM_001322043.2:c.1448G>A