Canonical Allele Identifier: PA2828129066
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 194122
ClinVar RCV Id: RCV000270996 RCV000656854 RCV001270063 RCV004020067
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350908.1:p.Pro727Leu
CA239944
NM_001363979.1:c.2180C>T