ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA259488
Gene: GALT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37354
ClinVar RCV Id:
RCV000506385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000146.2:p.Pro250Thr
CA259487
NM_000155.4:c.748C>A