ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057562514
Gene: BCS1L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
3759142
ClinVar RCV:
RCV005078939
ClinVar Variation:
3617371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004319.1:p.Ser82Leu
CA2109632
NM_004328.5:c.245C>T