ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827112403
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186428
ClinVar RCV Id:
RCV000166020
RCV000200794
RCV000423126
RCV000987830
RCV001354397
RCV001721076
RCV003995472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Ser343Gly
CA009665
NM_001322005.2:c.1027A>G