ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118739
Gene: SC5D
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007781
ClinVar Variation:
7356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008849.2:p.Tyr46Ser
CA118738
NM_006918.5:c.137A>C