ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825663043
Gene: PMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135049
ClinVar RCV Id:
RCV000121822
RCV000886431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121615.1:p.Tyr754His
CA161519
NM_001128143.2:c.2260T>C