ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112319
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_003850.1:p.Ser248Pro
CA150575
NM_003859.3:c.742T>C