ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827129794
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002424290
ClinVar Variation:
1785978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Ala391Val
CA366737984
NM_001322011.2:c.1172C>T