ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645411712
Gene: PYGL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000244117
RCV000268404
RCV000675371
ClinVar Variation:
258846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002854.3:p.Val222Ile
CA7183716
NM_002863.5:c.664G>A