ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028964
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_001333505.1:p.Thr22Ile
CA8277007
NM_001346576.2:c.65C>T