ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827429730
Gene: ITSN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1979700
ClinVar RCV Id:
RCV002756065
RCV004067924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335111.1:p.Arg691Gln
CA1551271
NM_001348182.2:c.2072G>A