ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248340
Gene: HSPG2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005520.4:p.Glu4292Lys
CA248339
NM_005529.7:c.12874G>A