ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826355559
Gene: BBS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143161
ClinVar RCV Id:
RCV000132689
RCV000246726
RCV000490439
RCV001085941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001239607.1:p.Met300Val
CA232857
NM_001252678.2:c.898A>G