ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825670049
Gene: REPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122089.1:p.Asp616Asn
CA4024014
NM_001128617.3:c.1846G>A