ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573102130
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424929
ClinVar RCV Id:
RCV000487808
RCV003389473
RCV004541531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Val4550Gly
CA1393248
NM_206933.4:c.13649T>G