ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139680305
Gene: GALC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972207
ClinVar RCV Id:
RCV001248182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000144.2:p.Gly194Ala
CA264711073
NM_000153.4:c.581G>C