ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916005997
Gene: DDC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000019388
ClinVar Variation:
17810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229819.2:p.Ser250Phe
CA127444
NM_001242890.2:c.749C>T