ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741921442
Gene: HSPG2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005520.4:p.Cys344Arg
CA338968677
NM_005529.7:c.1030T>C