Canonical Allele Identifier: PA1139668705
Gene: SOD1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000445.1:p.Leu107Phe
CA410037532
NM_000454.5:c.319C>T