ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101567
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
295423
ClinVar RCV Id:
RCV000280684
RCV000335820
RCV001470224
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Arg1471Thr
CA1395711
NM_206933.4:c.4412G>C