ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826083029
Gene: PGM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198483
ClinVar RCV Id:
RCV000179849
RCV000344895
RCV000385150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166290.1:p.Ala171Val
CA247153
NM_001172819.2:c.512C>T