Canonical Allele Identifier: PA2828128833
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_001350908.1:p.Val397Met
CA271672
NM_001363979.1:c.1189G>A