Canonical Allele Identifier: PA2828129004
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199171
ClinVar RCV Id: RCV003372638 RCV000724059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350908.1:p.Lys644Glu
CA248230
NM_001363979.1:c.1930A>G