ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645411714
Gene: PYGL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002854.3:p.Val231Met
CA7183708
NM_002863.5:c.691G>A