ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827127343
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001758992
ClinVar Variation:
1317120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Ala421Gly
CA366739705
NM_001322010.2:c.1262C>G