ClinGen Allele Registry
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Canonical Allele Identifier:
PA916018041
Gene: HSPG2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
195168
ClinVar RCV:
RCV000179196
RCV000259625
RCV000370645
ClinVar Variation:
198007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278789.1:p.Arg2481Trp
CA246472
NM_001291860.2:c.7441C>T