ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105988
Gene: SIGMAR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005857.1:p.Glu102Gln
NM_005866.4:c.304G>C