ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093155
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3998
ClinVar RCV Id:
RCV000004205
RCV000671290
RCV001268426
RCV000824425
RCV002512740
RCV003322587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Arg605Pro
CA116560
NM_017739.4:c.1814G>C