ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580514255
Gene: ITSN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002756065
RCV004067924
ClinVar Variation:
1979700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671494.2:p.Arg718Gln
CA1551271
NM_147152.3:c.2153G>A