ClinGen Allele Registry
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Canonical Allele Identifier:
PA241075
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000175345
RCV000336358
RCV000965580
RCV003927420
ClinVar Variation:
157833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ala1767Pro
CA241074
NM_018136.5:c.5299G>C