ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803240
Gene: SOD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536142
ClinVar RCV Id:
RCV000644456
RCV001289239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000445.1:p.Gly148Asp
CA410037815
NM_000454.5:c.443G>A