ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830473585
Gene: RBBP8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_976036.1:p.Ile408_Asn409del
CA8910033
NM_203291.2:c.1223_1228del