ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826002042
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_001158188.1:p.Ile380Val
CA6079886
NM_001164716.1:c.1138A>G