ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829615570
Gene: SIGMAR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005857.1:p.Glu150Lys
CA5035856
NM_005866.4:c.448G>A