ClinGen Allele Registry
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Canonical Allele Identifier:
PA916077543
Gene: SIGMAR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534261
ClinVar RCV Id:
RCV000641751
RCV003225105
RCV002369686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671513.1:p.Gly31Asp
CA5035958
NM_147157.3:c.92G>A