ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250384
Gene: NUBPL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
209179
ClinVar RCV Id:
RCV000191115
RCV000210568
RCV000786780
RCV000676602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079428.2:p.Leu104Pro
CA250383
NM_025152.2:c.311T>C