ClinGen Allele Registry
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Canonical Allele Identifier:
PA161499
Gene: PMS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000121814
RCV000879375
RCV003955790
ClinVar Variation:
135041
708165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000525.1:p.Glu59Lys
CA161497
NM_000534.5:c.174_175delinsTA
CA2026317
NM_000534.5:c.175G>A