Canonical Allele Identifier: PA2828128891
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2388401
ClinVar RCV Id: RCV002703654
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350908.1:p.Ile481Val
CA370221641
NM_001363979.1:c.1441A>G