ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645429881
Gene: GALC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370073
ClinVar RCV Id:
RCV000410159
RCV001093133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000144.2:p.Thr529Met
CA7296976
NM_000153.4:c.1586C>T