ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109510
Gene: PMM2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008145
RCV000078590
RCV000624874
RCV000991177
RCV001003989
RCV001003990
RCV001003991
RCV001257998
RCV002255089
RCV003924813
ClinVar Variation:
7706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000294.1:p.Arg141His
CA220621
NM_000303.3:c.422G>A