ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645459720
Gene: TMEM230
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009923.1:p.Arg141Leu
CA10584058
NM_001009923.2:c.422G>T