ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106477
Gene: SUMF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2676
ClinVar RCV Id:
RCV000002795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_877437.2:p.Ala348Pro
CA115679
NM_182760.4:c.1042G>C