ClinGen Allele Registry
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Canonical Allele Identifier:
PA916021168
Gene: BLOC1S6
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001298184.1:p.Gln83Ter
NM_001311255.1:c.247C>T