ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827098846
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127753
ClinVar RCV Id:
RCV000115649
RCV000220170
RCV000590932
RCV000586764
RCV001085405
RCV003315638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Asp231His
CA009190
NM_001322003.2:c.691G>C