ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825801480
Gene: ALS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129217.1:p.Val111Ile
CA2058669
NM_001135745.2:c.331G>A