ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340758
Gene: SGCD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000328.2:p.Ala131Pro
NM_000337.6:c.391G>C