ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063900219
Gene: PKLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000289.1:p.Thr384Arg
CA342752928
NM_000298.5:c.1151C>G