ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864903
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000485467
RCV002420234
ClinVar Variation:
422283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Thr703Lys
CA16618491
NM_000535.7:c.2108C>A