Canonical Allele Identifier: PA2827141170
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499746
ClinVar RCV Id: RCV000594510 RCV000766029 RCV003905533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308972.2:p.Lys448Thr
CA4610527
NM_001322043.2:c.1343A>C