ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580267237
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2080829
ClinVar RCV Id:
RCV002979561
RCV004065256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002854.3:p.Leu688Val
CA7183235
NM_002863.5:c.2062C>G