ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915982709
Gene: NUP188
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365209
ClinVar RCV Id:
RCV000378227
RCV002523737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056169.1:p.Ala3Val
CA5271832
NM_015354.3:c.8C>T