ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139701944
Gene: PYGM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.Leu587Pro
CA6079765
NM_005609.4:c.1760T>C