ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678109
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000519020
RCV001271475
RCV002527593
ClinVar Variation:
449805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.Arg642His
CA6079673
NM_005609.4:c.1925G>A