Canonical Allele Identifier: PA2827429515
Gene: ITSN2 HGNC NCBI
ClinVar RCV:
RCV003695533
ClinVar Variation:
2849064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001335110.1:p.Thr559Lys
CA43611988
NM_001348181.2:c.1676C>A