ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580121158
Gene: AGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2144508
ClinVar RCV Id:
RCV003068433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000635.2:p.His386Tyr
CA966401
NM_000644.2:c.1156C>T