ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825339079
Gene: SC5D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1679319
ClinVar RCV Id:
RCV002226916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020127.1:p.Pro179Ser
CA6328190
NM_001024956.3:c.535C>T