ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828098398
Gene: BEST1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143127
ClinVar RCV Id:
RCV000132651
RCV001781480
RCV002478405
RCV003888561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350520.1:p.Arg149Trp
CA270085
NM_001363591.2:c.445C>T