ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827143407
Gene: AHCY
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309015.1:p.Pro100Leu
CA9821059
NM_001322086.2:c.299C>T