ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827352118
Gene: ITSN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317940.1:p.Ile499Thr
CA320193310
NM_001331011.2:c.1496T>C