ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827139018
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000172820
RCV000239355
RCV000555261
RCV000567860
RCV000758628
RCV001357402
RCV001798624
ClinVar Variation:
192223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Thr625Ala
CA011001
NM_001322015.1:c.1873A>G