ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068514038
Gene: ILDR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787120.1:p.Glu335Lys
CA354143821
NM_175924.4:c.1003G>A