ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826002186
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000723589
RCV000763760
RCV002227444
ClinVar Variation:
95295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Leu565Val
CA222886
NM_001164716.1:c.1693C>G