ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826708207
Gene: SMIM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275512.1:p.Gly45Asp
CA338041389
NM_001288583.2:c.134G>A