ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139672547
Gene: CRX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000545.1:p.Arg40Trp
CA9544401
NM_000554.6:c.118C>T