ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827519167
Gene: GET1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337224.1:p.Arg107Cys
CA10028511
NM_001350295.2:c.319C>T