ClinGen Allele Registry
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Canonical Allele Identifier:
PA271105
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145192
RCV000624327
RCV000710646
RCV001252170
RCV003905252
ClinVar Variation:
157875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Ser2557Cys
CA271104
NM_018136.5:c.7670C>G