ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827429964
Gene: ITSN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002761354
ClinVar Variation:
1980452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335112.1:p.Arg1075Gln
CA1550934
NM_001348183.2:c.3224G>A