ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580500154
Gene: PGAM5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612642.2:p.His213Tyr
CA387394201
NM_138575.4:c.637C>T