ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396195
Gene: HSPG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
295834
ClinVar RCV Id:
RCV000304366
RCV000361371
RCV000517424
RCV000658125
RCV002278371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005520.4:p.Ala1766Val
CA671964
NM_005529.7:c.5297C>T