Canonical Allele Identifier: PA2828129482
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1333562
ClinVar RCV Id: RCV001808250 RCV001869586
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350909.1:p.Thr477Ile
CA171404591
NM_001363980.2:c.1430C>T