ClinGen Allele Registry
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Canonical Allele Identifier:
PA916021170
Gene: BLOC1S6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001298184.1:p.Lys136Glu
CA392300708
NM_001311255.1:c.406A>G