ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828066878
Gene: SGCE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2584843
ClinVar RCV Id:
RCV003340743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349738.1:p.Ile253Phe
CA4348696
NM_001362809.2:c.757A>T