ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826727419
Gene: REPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273541.1:p.Val78Leu
CA365815579
NM_001286612.2:c.232G>C