ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240711
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_002854.3:p.Asp634His
CA240710
NM_002863.5:c.1900G>C