ClinGen Allele Registry
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Canonical Allele Identifier:
PA916017985
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_001278789.1:p.Ala1767Val
CA671964
NM_001291860.2:c.5300C>T