Canonical Allele Identifier: PA2580103463
Gene: AMPD1 HGNC NCBI
ClinVar RCV:
RCV002913034
ClinVar Variation:
2043488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000027.3:p.Pro528Leu
CA341746907
NM_000036.3:c.1583C>T