ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025572
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230591
ClinVar RCV Id:
RCV000215049
RCV000463790
RCV000662890
RCV001547436
RCV003320609
RCV003997851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Glu77Lys
CA047448
NM_001322014.1:c.229G>A