ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580564972
Gene: SPMIP8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950247.3:p.Pro200Arg
CA281616694
NM_199046.3:c.599C>G