Canonical Allele Identifier: PA2826069404
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1333562
ClinVar RCV Id: RCV001808250 RCV001869586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166046.1:p.Thr429Ile
CA171404591
NM_001172575.2:c.1286C>T