ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741991283
Gene: RHBDD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2608517
ClinVar RCV Id:
RCV004351269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115652.2:p.Leu274Phe
CA351139761
NM_032276.5:c.820C>T