ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA358276
Gene: SUMF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2669
ClinVar RCV Id:
RCV000002788
RCV000082716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158147.1:p.Ala279Val
CA115674
NM_001164675.2:c.836C>T