ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580404167
Gene: TMEM165
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060945.2:p.Ala48Val
CA356958876
NM_018475.5:c.143C>T