ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645441593
Gene: CRYBB3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000294053
ClinVar Variation:
340957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004067.1:p.Arg195His
CA10157856
NM_004076.5:c.584G>A