ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826727506
Gene: REPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273541.1:p.Asp552Asn
CA4024014
NM_001286612.2:c.1654G>A