Canonical Allele Identifier: PA2827140519
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1520445
ClinVar RCV Id: RCV002046078
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Met382Leu
CA370220961
NM_001322042.2:c.1144A>C
CA370220963
NM_001322042.2:c.1144A>T