ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827107467
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186044
ClinVar RCV Id:
RCV000165566
RCV000513405
RCV000662642
RCV001193214
RCV003150024
RCV003483538
RCV003995430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Ala437Thr
CA010143
NM_001322004.2:c.1309G>A