Canonical Allele Identifier: PA2580107283
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2145759
ClinVar RCV Id: RCV003065193
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Thr684Ala
CA390745081
NM_000153.4:c.2050A>G