ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827107491
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000567269
RCV001045950
RCV004001069
ClinVar Variation:
484250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Thr441Ile
CA366740149
NM_001322004.2:c.1322C>T