Canonical Allele Identifier: PA2827141132
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 158817
ClinVar RCV Id: RCV000146270 RCV002515966
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Val395Met
CA271672
NM_001322043.2:c.1183G>A