ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070948604
Gene: RETREG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061873.2:p.Ser168Leu
CA3210287
NM_019000.5:c.503C>T