ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498158
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000423698
RCV000695966
RCV002429386
RCV002481307
RCV003448306
RCV003993957
ClinVar Variation:
382176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ala337Thr
CA2125204
NM_001927.4:c.1009G>A