Canonical Allele Identifier: PA2828128882
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 363525
ClinVar RCV Id: RCV000328196 RCV000504368 RCV000930721 RCV003950289
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350908.1:p.Thr468Asn
CA4610542
NM_001363979.1:c.1403C>A