ClinGen Allele Registry
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Canonical Allele Identifier:
PA645470950
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000484013
RCV000540608
RCV002329151
RCV003464016
RCV004003345
ClinVar Variation:
421121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Glu16Ala
CA038939
NM_000251.3:c.47A>C