Canonical Allele Identifier: PA2828129486
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1902671
ClinVar RCV Id: RCV002583102
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350909.1:p.Ile481Thr
CA370221643
NM_001363980.2:c.1442T>C