ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580157255
Gene: RTL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128360.1:p.Arg507His
CA7347309
NM_001134888.2:c.1520G>A