ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964942
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1038832
ClinVar RCV Id:
RCV001342194
RCV002261349
RCV002546950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157412.1:p.Asn813Ile
CA7183085
NM_001163940.2:c.2438A>T