ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743095
Gene: BCS1L
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001358380.1:p.Arg66Ter
NM_001371451.1:c.196C>T