ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830069648
Gene: REPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114128.3:p.Asp642Asn
CA4024014
NM_031922.5:c.1924G>A