ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827118514
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230824
ClinVar RCV Id:
RCV000214480
RCV000233535
RCV000485778
RCV001532968
RCV003997862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Gly374Ala
CA10578676
NM_001322007.2:c.1121G>C