ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580558442
Gene: RSBN1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940869.2:p.Pro5Arg
CA367825830
NM_198467.3:c.14C>G