ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA207176
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210347
ClinVar RCV Id:
RCV000193591
RCV000894302
RCV003454491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060606.3:p.Tyr462Cys
CA207175
NM_018136.5:c.1385A>G