ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828472891
Gene: BCS1L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000196315
ClinVar Variation:
214167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361014.1:p.Arg185Trp
CA320735
NM_001374085.1:c.553C>T