ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828064449
Gene: AHCY
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452110
ClinVar RCV Id:
RCV000522952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349679.1:p.Phe425Val
CA408652218
NM_001362750.2:c.1273T>G