ClinGen Allele Registry
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Canonical Allele Identifier:
PA645485415
Gene: BICD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001003800.1:p.Asn546del
NM_001003800.2:c.1636_1638del
NM_001003800.2:c.[1636_1638del;1641G>A]