ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092212
Gene: SC5D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001020127.1:p.Tyr46Ser
NM_001024956.3:c.137A>C