ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827118317
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000129211
RCV000232320
RCV000486562
RCV003235051
RCV003997486
ClinVar Variation:
140937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Thr324Ala
CA009484
NM_001322007.2:c.970A>G