ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195585
Gene: PKLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000289.1:p.Met356Arg
CA342753373
NM_000298.5:c.1067T>G