ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825999813
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_001158146.1:p.Ala254Val
CA115674
NM_001164674.2:c.761C>T