ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741923530
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2983674
ClinVar RCV Id:
RCV003840769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.Ile468Val
CA6079886
NM_005609.4:c.1402A>G