ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827143221
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_001309013.1:p.Phe397Val
CA408652218
NM_001322084.2:c.1189T>G