ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827140548
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2231533
ClinVar RCV Id:
RCV002708123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308971.2:p.Asp414Gly
CA370221226
NM_001322042.2:c.1241A>G