ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106555
Gene: PGM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133286
ClinVar RCV Id:
RCV000119799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002624.2:p.Leu516Pro
CA156390
NM_002633.3:c.1547T>C