ClinGen Allele Registry
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Canonical Allele Identifier:
PA645498336
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000335144
RCV001171071
RCV001441657
RCV003352824
ClinVar Variation:
290212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Val394Met
CA2125253
NM_001927.4:c.1180G>A