ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826185604
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379187
ClinVar RCV Id:
RCV001066773
RCV001720011
RCV004022309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180394.1:p.Pro1000Leu
CA16607657
NM_001193465.2:c.2999C>T