ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413639
Gene: RB1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000312.2:p.Leu199Ter
NM_000321.3:c.[596del;598T>A]
NM_000321.3:c.[596del;598T>G]
NM_000321.3:c.596T>A
NM_000321.3:c.596T>G