ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826440792
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6164
ClinVar RCV Id:
RCV000006539
RCV000665386
RCV001062637
RCV003472985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244272.1:p.Pro99Leu
CA117989
NM_001257343.2:c.296C>T