ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026174
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_001308943.1:p.Thr728Ala
CA011001
NM_001322014.1:c.2182A>G