ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195146
Gene: OBSL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056126.1:p.Val686Ile
CA2131347
NM_015311.3:c.2056G>A