ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827118668
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219612
ClinVar RCV Id:
RCV000206422
RCV000213296
RCV000587309
RCV000765957
RCV001160656
RCV003997572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Glu412Lys
CA044318
NM_001322007.2:c.1234G>A