ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964890
Gene: PYGL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000020496
RCV000675363
RCV003934845
ClinVar Variation:
21331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157412.1:p.Asp600His
CA240710
NM_001163940.2:c.1798G>C