ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA308274
Gene: DES
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000651546
RCV000726231
RCV002503715
RCV003486739
ClinVar Variation:
201706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Asp343Asn
CA308272
NM_001927.4:c.1027G>A