ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826463685
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000076009
RCV000217955
RCV000508278
RCV000694503
RCV003452797
ClinVar Variation:
90514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Pro283Leu
CA016990
NM_001258281.1:c.848C>T