ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825217729
Gene: DDC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000019388
ClinVar Variation:
17810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000781.2:p.Ser250Phe
CA127444
NM_000790.4:c.749C>T