ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA161530
Gene: PMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135052
ClinVar RCV Id:
RCV000121825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000525.1:p.Thr334Met
CA161528
NM_000534.5:c.1001C>T