ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246473
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_005520.4:p.Arg2480Trp
CA246472
NM_005529.7:c.7438C>T