ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828635577
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2216387
ClinVar RCV Id:
RCV002665764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362837.1:p.Ser18Asn
CA3036711
NM_001375908.1:c.53G>A