ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668072
Gene: PKLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
875546
ClinVar RCV Id:
RCV001099491
RCV001811652
RCV002558004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000289.1:p.Gly169Trp
CA1144325
NM_000298.5:c.505G>T