ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827125998
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91361
ClinVar RCV Id:
RCV000164809
RCV000409570
RCV000485945
RCV000524477
RCV001357098
RCV003149758
RCV003997191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Gln70Pro
CA012420
NM_001322010.2:c.209A>C