ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104422
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000002393
RCV003441700
ClinVar Variation:
2303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.Gln666Glu
CA252201
NM_005609.4:c.1996C>G