Canonical Allele Identifier: PA2826068786
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 363524
ClinVar RCV Id: RCV000358527 RCV001861328 RCV003258798
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166045.2:p.Pro431Ser
CA4610513
NM_001172574.2:c.1291C>T