ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828490007
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214159
ClinVar RCV Id:
RCV000200623
RCV000714568
RCV001137963
RCV001137961
RCV000949252
RCV001137962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358381.1:p.Val38Ile
CA325212
NM_001371452.1:c.112G>A