ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091267
Gene: ADSL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000017.1:p.Arg426His
NM_000026.3:c.1277G>A