ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101949
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000478468
ClinVar Variation:
418536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Pro3524His
CA16617055
NM_206933.4:c.10571C>A