ClinGen Allele Registry
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Canonical Allele Identifier:
PA645471914
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000456715
RCV001026093
RCV001843521
RCV002291632
RCV004000794
ClinVar Variation:
408546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Gln239Glu
CA16610793
NM_000251.3:c.715C>G