ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743248
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387667
ClinVar RCV Id:
RCV000432216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361015.1:p.Ala75Gly
CA16604137
NM_001374086.1:c.224C>G