ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573307100
Gene: DPM3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1383874
ClinVar RCV Id:
RCV001895569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714963.1:p.Ala83Val
CA1138405
NM_153741.2:c.248C>T