ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827430282
Gene: ITSN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2512103
ClinVar RCV Id:
RCV003549034
RCV004286748
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335115.1:p.Arg458His
CA1551498
NM_001348186.2:c.1373G>A