ClinGen Allele Registry
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Canonical Allele Identifier:
PA645497696
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
405628
ClinVar RCV:
RCV000478404
RCV003766688
ClinVar Variation:
421043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Gly44Ser
CA16617477
NM_001927.4:c.130G>A