ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396250
Gene: HSPG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290055
ClinVar RCV Id:
RCV000285449
RCV000340372
RCV000711940
RCV000765076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005520.4:p.Ser2412Asn
CA671265
NM_005529.7:c.7235G>A