ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916017904
Gene: HSPG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194641
ClinVar RCV Id:
RCV000175061
RCV000352369
RCV000388323
RCV000757384
RCV002277349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278789.1:p.Val693Met
CA201276
NM_001291860.2:c.2077G>A