ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573078573
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
595335
ClinVar RCV Id:
RCV000730857
RCV002493330
RCV002535174
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372957.1:p.Lys269Arg
CA6053449
NM_001386028.1:c.806A>G