ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826001933
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000368305
RCV001086488
ClinVar Variation:
281742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Arg299His
CA6079984
NM_001164716.1:c.896G>A