ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139736194
Gene: ALS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065970.2:p.Thr1578Ile
CA350320968
NM_020919.3:c.4733C>T