ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025666
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
525783
ClinVar RCV Id:
RCV000630078
RCV001019128
RCV002507058
RCV004002790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Tyr310Cys
CA052522
NM_001322014.1:c.929A>G