ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826002162
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000245345
RCV000296404
RCV001722323
ClinVar Variation:
259833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Val536Ile
CA6079690
NM_001164716.1:c.1606G>A