ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825339085
Gene: SC5D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1722313
ClinVar RCV Id:
RCV002302427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001020127.1:p.Ile203Thr
CA383029915
NM_001024956.3:c.608T>C