ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741876760
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2794295
ClinVar RCV Id:
RCV003672750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362840.1:p.Gly55Ser
CA3036834
NM_001375911.1:c.163G>A