ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827068492
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_001307973.1:p.Thr295Met
CA161528
NM_001321044.2:c.884C>T