ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827105583
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115651
RCV000212859
RCV000229947
RCV001030722
RCV001199850
RCV003421993
RCV003467050
RCV003997284
ClinVar Variation:
127754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Ala255Val
CA009271
NM_001322004.2:c.764C>T