ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825662988
Gene: PMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1338720
ClinVar RCV Id:
RCV001818091
RCV003438876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121615.1:p.Thr75Ile
CA2026322
NM_001128143.2:c.224C>T