ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827141526
Gene: MCPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449218
ClinVar RCV Id:
RCV000521381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308974.2:p.Tyr381Ser
CA4610503
NM_001322045.2:c.1142A>C