ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827140550
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2433680
ClinVar RCV Id:
RCV003132615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308971.2:p.Tyr415Cys
CA4610502
NM_001322042.2:c.1244A>G