ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826355350
Gene: BBS4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
177020
ClinVar RCV:
RCV000152841
RCV001085932
RCV003917487
ClinVar Variation:
166736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001239607.1:p.Asn178Ser
CA233519
NM_001252678.2:c.533A>G