ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645411760
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
313320
ClinVar RCV Id:
RCV000378008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002854.3:p.Leu739Met
CA7183172
NM_002863.5:c.2215C>A