ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864618
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002230436
RCV003449155
RCV004022861
ClinVar Variation:
411057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Lys465Gln
CA16612262
NM_000535.7:c.1393A>C