ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831367
Gene: ASL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001020114.1:p.Arg94Cys
NM_001024943.2:c.280C>T