ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396238
Gene: HSPG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284845
ClinVar RCV Id:
RCV000259556
RCV000354393
RCV000387513
RCV004535334
RCV002518950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005520.4:p.Ala2181Thr
CA671511
NM_005529.7:c.6541G>A