ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827196830
Gene: RBL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310538.1:p.Ser394Phe
CA395909603
NM_001323609.2:c.1181C>T