Canonical Allele Identifier: PA2828128781
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287122
ClinVar RCV Id: RCV000385537 RCV000712280 RCV001162916
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350908.1:p.Tyr330Cys
CA4610426
NM_001363979.1:c.989A>G