ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123288
Gene: ENPP1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006199.2:p.Lys173Gln
NM_006208.3:c.517A>C