Canonical Allele Identifier: PA2828129485
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2388401
ClinVar RCV Id: RCV002703654
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350909.1:p.Ile481Val
CA370221641
NM_001363980.2:c.1441A>G