Canonical Allele Identifier: PA2827141533
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1028326
ClinVar RCV Id: RCV001329351
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308974.2:p.Glu393Asp
CA4610510
NM_001322045.2:c.1179G>C
CA370221315
NM_001322045.2:c.1179G>T