ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826604196
Gene: SIGMAR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534264
ClinVar RCV Id:
RCV000641754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269138.1:p.Gly105Ser
CA5035855
NM_001282209.2:c.313G>A