ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000202
Gene: PCK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
779639
ClinVar RCV Id:
RCV000960533
RCV001142976
RCV003926126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002582.3:p.Arg483Gln
CA9922403
NM_002591.4:c.1448G>A