ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645442919
Gene: AHDC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381724
ClinVar RCV Id:
RCV000433811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025053.1:p.Arg487Trp
CA715938
NM_001029882.3:c.1459C>T