Canonical Allele Identifier: PA2828128893
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493466
ClinVar RCV Id: RCV000584915
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350908.1:p.Ile481Phe
CA4610557
NM_001363979.1:c.1441A>T