ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828490185
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000200623
RCV000714568
RCV000949252
RCV001137961
RCV001137962
RCV001137963
ClinVar Variation:
214159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358382.1:p.Val38Ile
CA325212
NM_001371453.1:c.112G>A