Canonical Allele Identifier: PA145822
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 92509
ClinVar RCV Id: RCV000078206 RCV000340530 RCV000675262 RCV003891531
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000144.2:p.Asp248Asn
CA145821
NM_000153.4:c.742G>A