ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741982692
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2601067
ClinVar RCV Id:
RCV003359230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078872.3:p.Val610Gly
CA4610674
NM_024596.5:c.1829T>G