ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741869477
Gene: AHDC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2972008
ClinVar RCV Id:
RCV003833070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358857.1:p.Pro752Ser
CA339232353
NM_001371928.1:c.2254C>T