ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573101964
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
378847
ClinVar RCV Id:
RCV000435312
RCV001073281
RCV001271125
RCV003449048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Gly4095Asp
CA1393508
NM_206933.4:c.12284G>A