ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658811662
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000651549
RCV000730717
ClinVar Variation:
541304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ser13Tyr
CA350682283
NM_001927.4:c.38C>A