ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827111781
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215759
ClinVar RCV Id:
RCV000563510
RCV000588576
RCV001081365
RCV001357920
RCV003479057
RCV003996962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Met177Thr
CA052531
NM_001322005.2:c.530T>C