ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573255741
Gene: UBQLN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_038472.2:p.Ser340Ile
CA330041875
NM_013444.4:c.1019G>T