Canonical Allele Identifier: PA2741813533
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 2683272
ClinVar RCV Id: RCV003480092
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Arg685Cys
CA7296824
NM_000153.4:c.2053C>T