ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018016
Gene: HSPG2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278789.1:p.Val2117Met
CA671591
NM_001291860.2:c.6349G>A