ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580478040
Gene: RHBDD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115652.2:p.Arg67Cys
CA2143674
NM_032276.5:c.199C>T