ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573250782
Gene: SC5D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1420609
ClinVar RCV Id:
RCV001914404
RCV004044071
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008849.2:p.Met234Val
CA6328218
NM_006918.5:c.700A>G