ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645474340
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.2083056822
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000478449
RCV000572368
RCV001210873
RCV004002297
ClinVar Variation:
419371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Val463Met
CA16617578
NM_000251.3:c.1387G>A