ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827378835
Gene: DPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183359
ClinVar RCV Id:
RCV000162191
RCV000210874
RCV003147374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333504.1:p.Leu223Pro
CA249975
NM_001346575.1:c.668T>C