ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827429760
Gene: ITSN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2634406
ClinVar RCV Id:
RCV003417155
RCV003732568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335111.1:p.Tyr940Cys
CA1551053
NM_001348182.2:c.2819A>G