ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025446
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142777
ClinVar RCV Id:
RCV000132181
RCV000218553
RCV000527509
RCV000500454
RCV003453093
ClinVar Variation Id:
820477
ClinVar RCV Id:
RCV001013976
RCV001242115
RCV002259376
RCV003387954
RCV003455081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Met1Leu