ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826727315
Gene: REPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273540.1:p.Ala113Glu
CA4024478
NM_001286611.2:c.338C>A