ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA259806
Gene: BLOC1S6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_036520.1:p.Gln78Ter
NM_012388.4:c.232C>T