ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645466658
Gene: PKLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
292817
ClinVar RCV Id:
RCV000342304
RCV003133211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000289.1:p.Ala63Gly
CA10608274
NM_000298.5:c.188C>G