ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580220579
Gene: AHDC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2122535
ClinVar RCV Id:
RCV003046917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358857.1:p.Thr319Ile
CA339235669
NM_001371928.1:c.956C>T