ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573285424
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1480436
ClinVar RCV Id:
RCV001985933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078872.3:p.Thr487Ala
CA4610563
NM_024596.5:c.1459A>G