ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580401764
Gene: BLOC1S4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060836.1:p.Pro43Leu
CA356183321
NM_018366.3:c.128C>T