ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827115370
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184994
ClinVar RCV Id:
RCV000164345
RCV000234512
RCV000486789
RCV000524430
RCV000657013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ala371Gly
CA009455
NM_001322006.2:c.1112C>G