Allele Registry

Canonical Allele Identifier: PA248340

Gene: HSPG2 HGNC NCBI

ClinVar RCV:

RCV000711912

RCV001101422

RCV001101423

RCV004539697

ClinVar Variation:

199234

HGVS (amino-acid)	Matching Registered Transcripts
NP_005520.4:p.Glu4292Lys	CA248339 NM_005529.7:c.12874G>A