ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741963864
Gene: BLTP3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060224.3:p.Arg382Cys
CA3766580
NM_017754.4:c.1144C>T