ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097277
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006545
RCV000779835
RCV001835622
RCV002243624
RCV002476937
RCV002512833
ClinVar Variation:
6170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073335.1:p.Arg183His
CA118021
NM_001079866.2:c.548G>A