ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106546
Gene: SUMF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2668
ClinVar RCV Id:
RCV000002787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_877437.2:p.Cys336Arg
CA115673
NM_182760.4:c.1006T>C