Canonical Allele Identifier: PA257366
Gene: SOD1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000445.1:p.His81Arg
CA257364
NM_000454.5:c.242A>G