Canonical Allele Identifier: PA2828128889
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1333562
ClinVar RCV Id: RCV001808250 RCV001869586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350908.1:p.Thr477Ile
CA171404591
NM_001363979.1:c.1430C>T