ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964759
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1976023
ClinVar RCV Id:
RCV002731188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157412.1:p.Thr71Pro
CA389699206
NM_001163940.2:c.211A>C