Canonical Allele Identifier: PA2580103533
Gene: AMPD1 HGNC NCBI
ClinVar RCV:
RCV003052703
ClinVar Variation:
2139645
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000027.3:p.Arg728His
CA1019907
NM_000036.3:c.2183G>A