ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825112639
Gene: PKLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000289.1:p.Gly305Glu
CA342753897
NM_000298.5:c.914G>A