Canonical Allele Identifier: PA2826070628
Gene: AMPD1 HGNC NCBI
ClinVar RCV:
RCV003058435
ClinVar Variation:
2137577
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166097.2:p.Arg720Cys
CA1019911
NM_001172626.2:c.2158C>T