ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499280843
Gene: BLTP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056127.2:p.Ser316Gly
CA3065497
NM_015312.4:c.946A>G