Canonical Allele Identifier: PA2826069339
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 363524
ClinVar RCV Id: RCV000358527 RCV001861328 RCV003258798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166046.1:p.Pro383Ser
CA4610513
NM_001172575.2:c.1147C>T