ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826000966
Gene: AMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56238
ClinVar RCV Id:
RCV000049650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158182.1:p.Tyr181Cys
CA263583
NM_001164710.2:c.542A>G