ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018041
Gene: HSPG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198007
ClinVar RCV Id:
RCV000179196
RCV000259625
RCV000370645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278789.1:p.Arg2481Trp
CA246472
NM_001291860.2:c.7441C>T