ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829134745
Gene: DPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521028
ClinVar RCV Id:
RCV000622588
RCV000677664
RCV001574312
RCV003928037
RCV004525988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374.4:p.Leu120Pro
CA8276945
NM_001383.6:c.359T>C