ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741813379
Gene: SGCB
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000223.1:p.Glu230Asp
NM_000232.5:c.690A>C
NM_000232.5:c.690A>T