ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138069
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187150
ClinVar RCV Id:
RCV000166845
RCV000474121
RCV000522983
RCV003995538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Ser379Gly
CA009691
NM_001322015.1:c.1135A>G