ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964847
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000020493
ClinVar Variation:
21328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157412.1:p.Val422Met
CA341906
NM_001163940.2:c.1264G>A