ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825343873
Gene: AHDC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1708369
ClinVar RCV Id:
RCV002287742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001025053.1:p.Arg590Trp
CA339233397
NM_001029882.3:c.1768C>T