ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170684
Gene: AMPD1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000027.2:p.Cys483Trp
NM_000036.2:c.1449C>G