ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093124
Gene: POMGNT1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_060209.4:p.Trp475Ter
NM_017739.4:c.1424G>A
NM_017739.4:c.1425G>A