ClinGen Allele Registry
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Canonical Allele Identifier:
PA891865014
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115687
RCV000196074
RCV000212874
RCV000656952
RCV003153372
RCV003467055
RCV003492487
ClinVar Variation:
127783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Arg813Trp
CA011485
NM_000535.7:c.2437C>T