ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220422
Gene: GALT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92518
ClinVar RCV Id:
RCV000078226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000146.2:p.Gln188Lys
CA220421
NM_000155.4:c.562C>A