ClinGen Allele Registry
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Canonical Allele Identifier:
PA916018020
Gene: HSPG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
295811
ClinVar RCV Id:
RCV000333445
RCV000388021
RCV001850533
RCV004021425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278789.1:p.Ala2165Val
CA671525
NM_001291860.2:c.6494C>T