ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828472883
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6170
ClinVar RCV Id:
RCV000006545
RCV000779835
RCV001835622
RCV002243624
RCV002476937
RCV002512833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361014.1:p.Arg183His
CA118021
NM_001374085.1:c.548G>A