ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357612
Gene: MSH2
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-5.7480915377
Linked Data - NCBI & NCI
ClinVar Allele:
221217
ClinVar RCV:
RCV000205795
RCV000481152
RCV000657148
RCV001180058
RCV003997604
ClinVar Variation:
220025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000242.1:p.Ser271Cys
CA349912
NM_000251.3:c.812C>G