ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825287849
Gene: SS18
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2531249
ClinVar RCV Id:
RCV004299619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007560.1:p.Pro283Ser
CA402079884
NM_001007559.3:c.847C>T