ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271007
Gene: ASPM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000274428
RCV000337624
RCV000909704
RCV003905249
ClinVar Variation:
157784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Arg573Trp
CA271006
NM_018136.5:c.1717C>T