ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139672011
Gene: RB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000312.2:p.Leu561Phe
CA029297
NM_000321.3:c.1681C>T