ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826002188
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000002392
ClinVar Variation:
2302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Glu567Lys
CA252200
NM_001164716.1:c.1699G>A