ClinGen Allele Registry
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Canonical Allele Identifier:
PA658811845
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
513253
ClinVar RCV:
RCV002265824
RCV004002755
ClinVar Variation:
522692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.His384Arg
CA350694607
NM_001927.4:c.1151A>G