ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826001691
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2144668
ClinVar RCV Id:
RCV003063050
RCV003349001
RCV003481374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Arg17His
CA6080384
NM_001164716.1:c.50G>A