ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830046265
Gene: DDHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_085140.2:p.Glu595del
CA7191131
NM_030637.3:c.1783_1785del