ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826603594
Gene: SIGMAR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269135.1:p.Glu113Lys
CA373272028
NM_001282206.2:c.337G>A