ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964861
Gene: PYGL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157412.1:p.Arg499Trp
CA7183425
NM_001163940.2:c.1495C>T