ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916021849
Gene: DPM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100634
ClinVar RCV Id:
RCV000087034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303963.1:p.Ser283Pro
CA150575
NM_001317034.1:c.847T>C