ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139762655
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805744
ClinVar RCV Id:
RCV000993541
RCV003455013
RCV003455014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Leu921Met
CA1396173
NM_206933.4:c.2761C>A