Canonical Allele Identifier: PA2827141580
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198906
ClinVar RCV Id: RCV000180367 RCV001818445
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308974.2:p.Ala460Thr
CA247805
NM_001322045.2:c.1378G>A