ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825964790
Gene: PYGL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000244117
RCV000268404
RCV000675371
ClinVar Variation:
258846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157412.1:p.Val188Ile
CA7183716
NM_001163940.2:c.562G>A