ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580279648
Gene: PCK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2490888
ClinVar RCV Id:
RCV003215572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002582.3:p.Val196Met
CA9922067
NM_002591.4:c.586G>A