ClinGen Allele Registry
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Canonical Allele Identifier:
PA308283
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000532526
RCV000656841
RCV002265670
RCV002381604
RCV002492826
ClinVar Variation:
201709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Arg415Trp
CA308281
NM_001927.4:c.1243C>T