ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118735
Gene: SC5D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7354
ClinVar RCV Id:
RCV000007779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008849.2:p.Arg29Gln
CA118734
NM_006918.5:c.86G>A