ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499296217
Gene: MADD
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_569832.2:p.Val751Met
NM_130476.3:c.2251G>A