ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580220577
Gene: AHDC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1720126
ClinVar RCV Id:
RCV002305092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358857.1:p.Pro310Leu
CA339235723
NM_001371928.1:c.929C>T