ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118323
Gene: KERA
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_008966.1:p.Gln174Ter
NM_007035.4:c.520C>T