ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830405387
Gene: PKLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_870986.1:p.Arg328Pro
CA342753354
NM_181871.4:c.983G>C