ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573209554
Gene: PGM3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1474850
ClinVar RCV Id:
RCV001973685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354216.1:p.His285Leu
CA364881834
NM_001367287.1:c.854A>T