ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645382049
Gene: POMK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436700
ClinVar RCV Id:
RCV000500315
RCV000543981
RCV001335201
RCV001696977
RCV003159631
RCV003979901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115613.1:p.Ile189Val
CA4736303
NM_032237.5:c.565A>G