ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100570
Gene: DES
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ser46Tyr
CA217053
NM_001927.4:c.137C>A