ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826603717
Gene: SIGMAR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
39194
ClinVar RCV:
RCV000023162
RCV001852015
RCV002444439
ClinVar Variation:
30238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269136.1:p.Glu82Gln
CA259767
NM_001282207.2:c.244G>C