ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA354189
Gene: DNM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
225871
ClinVar RCV:
RCV000209889
RCV000626796
RCV002284374
ClinVar Variation:
224142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005336.1:p.Val47Met
CA354188
NM_001005336.3:c.139G>A