ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864546
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142561
ClinVar RCV Id:
RCV000131757
RCV000198383
RCV000855605
RCV000586259
RCV000987834
RCV001355081
RCV001535477
RCV002275085
RCV003323294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Val415Met
CA009419
NM_000535.7:c.1243G>A