ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827116103
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002410427
RCV003121014
ClinVar Variation:
1780834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Val557Met
CA366739701
NM_001322006.2:c.1669G>A