ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916017978
Gene: HSPG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197080
ClinVar RCV Id:
RCV000178005
RCV000191093
RCV001099320
RCV000991336
RCV004537456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278789.1:p.Thr1640Met
CA245018
NM_001291860.2:c.4919C>T