ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201411
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000175351
RCV000386579
RCV000906357
RCV003947484
ClinVar Variation:
194879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Arg2492Lys
CA201410
NM_018136.5:c.7475G>A