ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341909
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000020494
ClinVar Variation:
21329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002854.3:p.Arg491Cys
CA341908
NM_002863.5:c.1471C>T