ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915971243
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
803027
ClinVar RCV Id:
RCV000989224
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002854.3:p.Thr59Lys
CA260846444
NM_002863.5:c.176C>A