ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645466674
Gene: PKLR
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_870986.1:p.Ser99Tyr
NM_181871.4:c.296C>A