Canonical Allele Identifier: PA2827132452
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455727
ClinVar RCV Id: RCV000544593 RCV000580997
ClinVar Variation Id: 629966
ClinVar RCV Id: RCV000774829
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Arg40Ser
CA366744174
NM_001322013.1:c.120G>T
CA366744175
NM_001322013.1:c.120G>C