ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916003939
Gene: NUBPL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000191115
RCV000210568
RCV000676602
RCV000786780
ClinVar Variation:
209179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188502.1:p.Leu8Pro
CA250383
NM_001201573.2:c.23T>C