ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474187
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000478467
RCV000559869
RCV000567051
RCV003463981
RCV004002270
ClinVar Variation:
418772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Leu387Phe
CA027116
NM_000251.3:c.1159C>T