ClinGen Allele Registry
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Canonical Allele Identifier:
PA916017948
Gene: HSPG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447549
ClinVar RCV Id:
RCV000710146
RCV001096080
RCV002279305
RCV004537844
RCV001096081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278789.1:p.Ala1237Glu
CA672546
NM_001291860.2:c.3710C>A