ClinGen Allele Registry
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Canonical Allele Identifier:
PA891864637
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000129313
RCV000205844
RCV000215100
RCV000219384
RCV000589892
RCV000629794
RCV000780614
RCV002505103
RCV003491960
RCV003997493
RCV003997637
ClinVar Variation:
141000
220433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Gly480Arg
CA009685
NM_000535.7:c.1438G>C
CA043581
NM_000535.7:c.1438G>A