ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688787
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000041795
RCV000415970
RCV001003284
RCV001101110
RCV001376290
ClinVar Variation:
48472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Leu555Val
CA143415
NM_007123.6:c.1663C>G