ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139706834
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
987303
ClinVar RCV Id:
RCV001268629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004174.1:p.Gln238Arg
CA380838958
NM_004183.3:c.713A>G