ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827350743
Gene: TMEM230
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317915.1:p.Arg78Leu
CA10584058
NM_001330986.2:c.233G>T