ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118020
Gene: BCS1L
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004319.1:p.Arg56Ter
NM_004328.5:c.166C>T