ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827430030
Gene: ITSN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2849064
ClinVar RCV Id:
RCV003695533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335113.1:p.Thr559Lys
CA43611988
NM_001348184.2:c.1676C>A