ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101749
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483762
ClinVar Variation:
419673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Gly2849Val
CA16617056
NM_206933.4:c.8546G>T