ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA181185
Gene: CRYAB
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001876.1:p.Pro39Leu
NM_001885.3:c.116C>T