Canonical Allele Identifier: PA2827140538
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211445
ClinVar RCV Id: RCV000194732 RCV000919165 RCV001164997
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Ala398Val
CA209101
NM_001322042.2:c.1193C>T