ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826254476
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_001188331.1:p.Asp222Asn
CA145821
NM_001201402.2:c.664G>A