ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA172113
Gene: DNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158519
ClinVar RCV Id:
RCV000145909
RCV002515958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005361.1:p.Leu621Pro
CA172112
NM_001005361.3:c.1862T>C