ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826001931
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000494108
RCV001036939
RCV003409682
ClinVar Variation:
430154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Glu295Lys
CA6079985
NM_001164716.1:c.883G>A