ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827129890
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192223
ClinVar RCV Id:
RCV000172820
RCV000239355
RCV000555261
RCV000567860
RCV000758628
RCV001357402
RCV001798624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Thr417Ala
CA011001
NM_001322011.2:c.1249A>G