Canonical Allele Identifier: PA2825964855
Gene: PYGL HGNC NCBI
ClinVar RCV:
RCV000020494
ClinVar Variation:
21329
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157412.1:p.Arg457Cys
CA341908
NM_001163940.2:c.1369C>T