ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964901
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21335
ClinVar RCV Id:
RCV000020500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157412.1:p.Lys647Thr
CA341918
NM_001163940.2:c.1940A>C