ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573213971
Gene: AHDC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1518762
ClinVar RCV Id:
RCV002024106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358857.1:p.Pro336Leu
CA339235551
NM_001371928.1:c.1007C>T