ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827141146
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1966836
ClinVar RCV Id:
RCV002745627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308972.2:p.Tyr413Asp
CA370221232
NM_001322043.2:c.1237T>G