ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915959591
Gene: PKLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
806233
ClinVar RCV Id:
RCV000994122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000289.1:p.Gly536Val
CA342750267
NM_000298.5:c.1607G>T