ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830311578
Gene: SIGMAR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671513.1:p.Glu182Lys
CA373272028
NM_147157.3:c.544G>A