ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580469496
Gene: NUBPL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002996233
ClinVar Variation:
2085361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079428.2:p.Ala307Val
CA389481396
NM_025152.2:c.920C>T