ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825339094
Gene: SC5D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1333349
ClinVar RCV Id:
RCV001808037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020127.1:p.Leu219Ser
CA383030195
NM_001024956.3:c.656T>C