ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222887
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000723589
RCV000763760
RCV002227444
ClinVar Variation:
95295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.Leu653Val
CA222886
NM_005609.4:c.1957C>G