ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580132327
Gene: TMEM30B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017970.1:p.Arg180Cys
CA7214881
NM_001017970.3:c.538C>T