ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279915
Gene: NUP107
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219127
ClinVar RCV Id:
RCV000203507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065134.1:p.Asp831Ala
CA279914
NM_020401.4:c.2492A>C