ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828915795
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1305123
ClinVar RCV Id:
RCV001773833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369639.1:p.Ile123Asn
CA350685594
NM_001382710.1:c.368T>A