ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573225072
Gene: PCK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002582.3:p.Pro423Leu
CA9922335
NM_002591.4:c.1268C>T