ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826253873
Gene: GALC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000256130
RCV000984177
ClinVar Variation:
265479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188330.1:p.Ile227Thr
CA10588577
NM_001201401.2:c.680T>C