ClinGen Allele Registry
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Canonical Allele Identifier:
PA206410
Gene: GALC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
208128
ClinVar RCV:
RCV000193133
RCV000395974
RCV002261004
RCV003955152
ClinVar Variation:
211059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000144.2:p.Arg220Gln
CA206409
NM_000153.4:c.659G>A