ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396237
Gene: HSPG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
295811
ClinVar RCV Id:
RCV000333445
RCV000388021
RCV001850533
RCV004021425
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005520.4:p.Ala2164Val
CA671525
NM_005529.7:c.6491C>T