ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580334052
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2075803
ClinVar RCV Id:
RCV002967974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.His769Pro
CA6079573
NM_005609.4:c.2306A>C