ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580282914
Gene: SORD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003095.2:p.Pro244Leu
CA392243157
NM_003104.6:c.731C>T