ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573102140
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
431572
ClinVar RCV:
RCV000504707
RCV000657876
RCV000674502
RCV003464079
ClinVar Variation:
438016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Thr4809Ile
CA1393021
NM_206933.4:c.14426C>T