ClinGen Allele Registry
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Canonical Allele Identifier:
PA916015486
Gene: REPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273540.1:p.Asp643Asn
CA4024014
NM_001286611.2:c.1927G>A