ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827132621
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127801
ClinVar RCV Id:
RCV000115710
RCV000656943
RCV000469956
RCV001093686
RCV003460827
RCV003997295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Val115Met
CA013247
NM_001322013.1:c.343G>A