ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827119018
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188154
ClinVar RCV Id:
RCV000168042
RCV000482215
RCV000562276
RCV003995603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Val501Ile
CA010297
NM_001322007.2:c.1501G>A