ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA133840
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000037236
RCV000515205
RCV000724220
RCV000805979
RCV001137421
RCV001137423
RCV004018830
ClinVar Variation:
44256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Gly65Ser
CA133838
NM_001927.4:c.193G>A