ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100488
Gene: DES
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Leu385Pro
CA217023
NM_001927.4:c.1154T>C