ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864513
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115651
RCV000212859
RCV000229947
RCV001030722
RCV001199850
RCV003421993
RCV003467050
RCV003997284
ClinVar Variation:
127754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Ala390Val
CA009271
NM_000535.7:c.1169C>T