ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA133885
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44274
ClinVar RCV Id:
RCV000056815
RCV000245347
RCV000475003
RCV000770171
RCV001137623
RCV001137622
RCV001293064
RCV002265577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Asp312Asn
CA133883
NM_001927.4:c.934G>A