ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573250785
Gene: SC5D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1383007
ClinVar RCV Id:
RCV001890700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008849.2:p.Gly251Asp
CA6328224
NM_006918.5:c.752G>A