ClinGen Allele Registry
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Canonical Allele Identifier:
PA891864273
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133250
ClinVar RCV:
RCV000115699
RCV000123090
RCV000148736
RCV000212845
RCV000757678
RCV000987846
RCV001079691
RCV001798337
RCV003407497
ClinVar Variation:
127793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Gly207Glu
CA012442
NM_000535.7:c.620G>A