ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827430135
Gene: ITSN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1265149
ClinVar RCV Id:
RCV001677922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335114.1:p.Val291Ile
CA1551618
NM_001348185.2:c.871G>A