ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA171258
Gene: ASPM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000145197
RCV000393841
RCV000513997
ClinVar Variation:
157878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Val2596Ala
CA171257
NM_018136.5:c.7787T>C