ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827134006
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
517233
ClinVar RCV Id:
RCV000612857
RCV001214793
RCV002420652
RCV002483696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Lys479Glu
CA366738199
NM_001322013.1:c.1435A>G