ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664823
Gene: GALC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000522459
RCV000673406
RCV002252151
RCV002307527
ClinVar Variation:
449966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000144.2:p.Pro89Leu
CA7297441
NM_000153.4:c.266C>T