ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101972
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000672328
RCV000986516
RCV001074933
RCV001171541
RCV001366541
RCV001374884
RCV002282318
ClinVar Variation:
556334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Leu4406Pro
CA1393328
NM_206933.4:c.13217T>C