Canonical Allele Identifier: PA2826070484
Gene: AMPD1 HGNC NCBI
ClinVar RCV:
RCV002913034
ClinVar Variation:
2043488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166097.2:p.Pro524Leu
CA341746907
NM_001172626.2:c.1571C>T