ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828761116
Gene: SP110
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1347977
ClinVar RCV Id:
RCV002044098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365374.1:p.Asp499Val
CA350903329
NM_001378445.1:c.1496A>T