Canonical Allele Identifier: PA2827141534
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1378966
ClinVar RCV Id: RCV001883529
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308974.2:p.Leu395Phe
CA4610511
NM_001322045.2:c.1183C>T