ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828635584
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001997577
ClinVar Variation:
1449494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362837.1:p.Gly40Asp
CA357834952
NM_001375908.1:c.119G>A