ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580122542
Gene: AGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2438917
ClinVar RCV Id:
RCV003141252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000635.2:p.Arg1253Cys
CA967207
NM_000644.2:c.3757C>T