ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645411739
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000385175
RCV003165843
ClinVar Variation:
313323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002854.3:p.Thr586Met
CA7183363
NM_002863.5:c.1757C>T