ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800315
Gene: RB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000312.2:p.Glu748Lys
CA388167545
NM_000321.3:c.2242G>A