ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829732386
Gene: BLOC1S6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036520.1:p.Lys131Glu
CA392300708
NM_012388.4:c.391A>G