ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826254893
Gene: GALC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2145759
ClinVar RCV Id:
RCV003065193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188331.1:p.Thr658Ala
CA390745081
NM_001201402.2:c.1972A>G