ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827119424
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
50148
ClinVar RCV:
RCV000034624
RCV000115676
RCV000199450
RCV000411225
RCV000417397
RCV000515268
RCV001081398
RCV001798066
RCV003492332
ClinVar Variation:
41709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Val611Met
CA010907
NM_001322007.2:c.1831G>A