ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827130409
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142959
ClinVar RCV Id:
RCV000132451
RCV000590247
RCV000662505
RCV001085599
RCV001260258
RCV001270440
RCV003415967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Met1Ile