ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645396352
Gene: HSPG2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000278239
RCV000375072
RCV001511116
ClinVar Variation:
295700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005520.4:p.Ser4331Asn
CA669189
NM_005529.7:c.12992G>A