ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139714218
Gene: SC5D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
916042
ClinVar RCV Id:
RCV001171521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008849.2:p.Pro160Arg
CA383029074
NM_006918.5:c.479C>G