ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827430295
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_001335115.1:p.Thr573Lys
CA43611988
NM_001348186.2:c.1718C>A