ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826287572
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1033472
ClinVar RCV Id:
RCV001335898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Thr1242Ile
CA35883331
NM_001206846.2:c.3725C>T