ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830157219
Gene: OSBPL1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542164.2:p.Arg875Gln
CA402074314
NM_080597.4:c.2624G>A