ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA175622
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000150379
RCV000474215
RCV000724983
RCV002426711
ClinVar Variation:
163024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Gly84Ser
CA175620
NM_001927.4:c.250G>A