ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826254686
Gene: GALC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000353661
ClinVar Variation:
314749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188331.1:p.His433Arg
CA7297025
NM_001201402.2:c.1298A>G