ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827378775
Gene: DPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445317
ClinVar RCV Id:
RCV000513862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333503.1:p.Thr162Ile
CA8277007
NM_001346574.1:c.485C>T