ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139765388
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177746
ClinVar RCV Id:
RCV000154359
RCV000724181
RCV001272929
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Thr4918Met
CA180690
NM_206933.4:c.14753C>T