ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139756361
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
909149
ClinVar RCV Id:
RCV001160084
RCV001751293
RCV003928758
RCV002559533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078872.3:p.Glu409Val
CA4610498
NM_024596.5:c.1226A>T