ClinGen Allele Registry
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Canonical Allele Identifier:
PA891864117
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000477451
RCV000481770
RCV000776176
RCV002268089
RCV004001885
ClinVar Variation:
411085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Glu77Ala
CA047490
NM_000535.7:c.230A>C