ClinGen Allele Registry
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Canonical Allele Identifier:
PA645428270
Gene: GALC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000338048
RCV000658703
RCV001251992
RCV003930348
ClinVar Variation:
314763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000144.2:p.Ala14Gly
CA7297524
NM_000153.4:c.41C>G