ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829770483
Gene: RUBCN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055502.1:p.Thr548Ala
CA90967773
NM_014687.4:c.1642A>G