ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828932804
Gene: BLTP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371054.1:p.Ile171Thr
CA3065370
NM_001384125.1:c.512T>C