ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812441
Gene: BLTP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056127.2:p.Arg147Cys
CA3065352
NM_015312.4:c.439C>T