ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580187270
Gene: SIGMAR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269135.1:p.Gly74Ser
CA5035846
NM_001282206.2:c.220G>A