ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA158295
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133978
ClinVar RCV Id:
RCV000120647
RCV000145912
RCV000199355
RCV001122144
RCV002408627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005360.1:p.Val64Ile
CA158294
NM_001005360.3:c.190G>A