Canonical Allele Identifier: PA2827111783
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142959
ClinVar RCV Id: RCV000132451 RCV000590247 RCV000662505 RCV001085599 RCV001260258 RCV001270440 RCV003415967
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Met177Ile
CA013317
NM_001322005.2:c.531G>A
CA366743161
NM_001322005.2:c.531G>T
CA366743162
NM_001322005.2:c.531G>C