ClinGen Allele Registry
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Canonical Allele Identifier:
PA915984169
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115530
RCV000199902
RCV000217044
RCV000411543
RCV001175574
RCV003997279
ClinVar Variation:
127646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Leu69Phe
CA021136
NM_001258281.1:c.205C>T