ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826287239
Gene: ASPM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145070
RCV000267551
RCV000907315
RCV003965090
ClinVar Variation:
157769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193775.1:p.Thr336Lys
CA270987
NM_001206846.2:c.1007C>A