ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499299004
Gene: SGMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1224412
ClinVar RCV Id:
RCV001597479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689834.1:p.Tyr56Phe
CA357835061
NM_152621.6:c.167A>T