ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580532067
Gene: SGCD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1789219
ClinVar RCV Id:
RCV002457534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_758447.1:p.Leu77Ile
CA362007993
NM_172244.3:c.229C>A