ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100325
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056762
RCV000856836
RCV002265557
ClinVar Variation:
16820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ala337Pro
CA216997
NM_001927.4:c.1009G>C