ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827128146
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000129748
RCV003453067
ClinVar Variation:
141291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Leu635Pro
CA011547
NM_001322010.2:c.1904T>C