ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139766327
Gene: POMK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
843307
ClinVar RCV Id:
RCV001045903
RCV003132167
RCV002553133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115613.1:p.Asp207Gly
CA4736324
NM_032237.5:c.620A>G