ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658809147
Gene: RHBDF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071895.3:p.Ala538Val
CA7768161
NM_022450.5:c.1613C>T