ClinGen Allele Registry
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Canonical Allele Identifier:
PA891864764
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000220236
RCV000629788
RCV002229221
RCV003997849
ClinVar Variation:
230549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Pro574Ala
CA045370
NM_000535.7:c.1720C>G