ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827138974
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41709
ClinVar RCV Id:
RCV000034624
RCV000115676
RCV000199450
RCV000411225
RCV000417397
RCV000515268
RCV001081398
RCV001798066
RCV003492332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Val614Met
CA010907
NM_001322015.1:c.1840G>A