ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103749
Gene: SARDH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001128179.1:p.Pro287Leu
NM_001134707.2:c.860C>T