ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826604204
Gene: SIGMAR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465869
ClinVar RCV Id:
RCV000543324
RCV001662555
RCV002330884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269138.1:p.Arg108Gln
CA5035850
NM_001282209.2:c.323G>A