ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828473128
Gene: BCS1L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000049827
ClinVar Variation:
56414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361014.1:p.Val327Ala
CA144350
NM_001374085.1:c.980T>C