ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827129450
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001013276
RCV001355480
RCV003594071
ClinVar Variation:
820125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Val298Ala
CA366739699
NM_001322011.2:c.893T>C