Canonical Allele Identifier: PA2827141115
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2048284
ClinVar RCV Id: RCV002927082 RCV002927083
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Ile379Val
CA4610471
NM_001322043.2:c.1135A>G