ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810078
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000596502
RCV000837922
RCV001088368
RCV002532359
ClinVar Variation:
496875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.Val630Met
CA6079683
NM_005609.4:c.1888G>A