ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139712676
Gene: PCK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
898849
ClinVar RCV Id:
RCV001142977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002582.3:p.Arg518Gln
CA9922421
NM_002591.4:c.1553G>A