ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827383432
Gene: SGCE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
938661
ClinVar RCV Id:
RCV001207926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333648.1:p.Asn348His
CA4348623
NM_001346719.1:c.1042A>C