Canonical Allele Identifier: PA2580103523
Gene: AMPD1 HGNC NCBI
ClinVar RCV:
RCV002294983
ClinVar Variation:
1721735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000027.3:p.Arg724Pro
CA341742539
NM_000036.3:c.2171G>C