ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043437
Gene: AHCY
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000223995
RCV001267457
ClinVar Variation:
235681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349679.1:p.Pro98Leu
CA9821059
NM_001362750.2:c.293C>T