ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025717
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000131757
RCV000198383
RCV000586259
RCV000855605
RCV000987834
RCV001355081
RCV001535477
RCV002275085
RCV003323294
ClinVar Variation:
142561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Val415Met
CA009419
NM_001322014.1:c.1243G>A