ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828129434
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_001350909.1:p.Glu409Val
CA4610498
NM_001363980.2:c.1226A>T