ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826000297
Gene: SUMF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158147.1:p.Ser339Leu
CA2230324
NM_001164675.2:c.1016C>T