ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913196011
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000772772
RCV001241244
ClinVar Variation:
628315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Ala608Val
CA366739704
NM_000535.7:c.1823C>T