ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830311570
Gene: SIGMAR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465871
ClinVar RCV Id:
RCV000531796
RCV001722482
RCV001662556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671513.1:p.Arg177Trp
CA5035823
NM_147157.3:c.529C>T