ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026233
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133237
ClinVar RCV:
RCV000115684
RCV000206341
RCV000212871
RCV000411108
RCV000515369
RCV000759201
RCV001355417
RCV003149800
RCV003415891
ClinVar Variation:
127780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Asp795Asn
CA011325
NM_001322014.1:c.2383G>A