ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830290846
Gene: SNX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3167129
ClinVar RCV Id:
RCV004464494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_683758.1:p.Leu248Val
CA7607896
NM_148955.4:c.742C>G