ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA351027
Gene: RBP3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002891.1:p.Val593Ala
NM_002900.3:c.1778T>C