ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827118691
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133220
ClinVar RCV:
RCV000115661
RCV000121851
RCV000656949
RCV000662627
RCV001082540
RCV001357983
RCV002279936
RCV003149798
RCV003389689
ClinVar Variation:
127763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Ser417Thr
CA009875
NM_001322007.2:c.1249T>A