ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195902
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
630207
ClinVar RCV Id:
RCV000775363
RCV003461037
RCV001067061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Val380Gly
CA042071
NM_000535.7:c.1139T>G