Canonical Allele Identifier: PA2826070481
Gene: AMPD1 HGNC NCBI
ClinVar RCV:
RCV002618865
ClinVar Variation:
1930284
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166097.2:p.Phe519Ser
CA341747005
NM_001172626.2:c.1556T>C