ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099773
Gene: NIPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2520
ClinVar RCV Id:
RCV000002628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653200.2:p.Thr45Arg
CA115591
NM_144599.5:c.134C>G