ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827309003
Gene: CRYAB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003051342
ClinVar Variation:
2143111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317308.1:p.Gln84Glu
CA382595905
NM_001330379.1:c.250C>G