ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085969047
Gene: BLOC1S3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997715.1:p.Ser44Leu
CA406344198
NM_212550.5:c.131C>T